ISCA-37431-Loss

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ISCA-37431-Loss Region in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.250	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome
Green ISCA-37431-Loss Region in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.540	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome
Green ISCA-37431-Loss Region in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.134	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome
Green ISCA-37431-Loss Region in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.161	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome
Green ISCA-37431-Loss Region in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.133	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome
Green ISCA-37431-Loss Region in Rasopathy Level 2: Dysmorphic and congenital abnormality syndromes Version 0.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome
Green ISCA-37431-Loss Region in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.780	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome
Green ISCA-37431-Loss Region in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 1.12 Component of the following Super Panels: Progressive Neurological Conditions Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome
Green ISCA-37431-Loss Region in Common deletion and duplication syndromes Version 0.158	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome
Green ISCA-37431-Loss Region in Facial papules Level 2: Dermatological disorders Version 1.1	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome
Green ISCA-37431-Loss Region in Sarcoma soft tissue Level 2: Cancer Predisposition Version 1.1	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome
Green ISCA-37431-Loss Region in Paraganglioma_phaeochromocytoma Level 2: Cancer Predisposition Version 1.2	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome
Green ISCA-37431-Loss Region in Breast Cancer Level 2: Cancer Predisposition Version 1.19	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome